Literature DB >> 2667456

Townes-Brocks syndrome. Report of a case and review of the literature.

F G Ferraz1, L Nunes, M E Ferraz, J P Sousa, M Santos, C Carvalho, P Maroteaux.   

Abstract

The authors report a new case of Townes-Brocks syndrome with cardiac defect, ossicular anomalies and dominant transmission. The intrafamilial variability of the phenotype and the difficulty of diagnosis in isolated cases are underlined.

Entities:  

Mesh:

Year:  1989        PMID: 2667456

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  7 in total

1.  Townes-Brocks syndrome.

Authors:  R König; U Schick; S Fuchs
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

Review 2.  Townes-Brocks syndrome.

Authors:  C M Powell; R C Michaelis
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

3.  The Townes-Brocks syndrome.

Authors:  M O'Callaghan; I D Young
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 4.  Hearing loss and renal syndromes.

Authors:  Paul J Phelan; Michelle N Rheault
Journal:  Pediatr Nephrol       Date:  2017-11-12       Impact factor: 3.714

5.  An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

Authors:  A J Green; R N Sandford; B C Davison
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

6.  Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.

Authors:  P D Si Dong; Sokol V Todi; Daniel F Eberl; Grace Boekhoff-Falk
Journal:  Proc Natl Acad Sci U S A       Date:  2003-08-18       Impact factor: 11.205

7.  Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.

Authors:  Paulo Breno Noronha Liberalesso; Mara L Cordeiro; Simone Carreiro Vieira Karuta; Karyn Regina Jordão Koladicz; Anderson Nitsche; Bianca Simone Zeigelboim; Salmo Raskin; Michael Rauchman
Journal:  BMC Med Genet       Date:  2017-11-06       Impact factor: 2.103

  7 in total

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